Search
early infantile epileptic encephalopathy type 4
Genetics:
- associated with defects in STXBP1
Clinical manifestations:
- neonatal or infantile onset of seizures
- profound mental retardation
Special laboratory:
- electroencephalogram (EEG)
- suppression-burst pattern on EEG
Radiology:
- magnetic resonance imaging shows hypomyelination
General
infantile epileptic encephalopathy
Database Correlations
OMIM 612164
References
OMIM :accession 612164